Literature DB >> 10594883

The Richieri-Costa and Pereira form of acrofacial dysostosis: first case in a non-Brazilian infant.

E Walter-Nicolet1, A Coëslier, S Joriot, N Kacet, A Moerman, S Manouvrier-Hanu.   

Abstract

We report on a French boy with cleft mandible, pre/postaxial hand anomalies, and clubfoot born to consanguineous parents. These findings are comparable to those of previous cases of the autosomal recessive Richieri-Costa and Pereira syndrome of short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot. This is the first case in a non-Brazilian infant. Copyright 1999 Wiley-Liss, Inc.

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Year:  1999        PMID: 10594883     DOI: 10.1002/(sici)1096-8628(19991222)87:5<430::aid-ajmg11>3.0.co;2-9

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  1 in total

1.  [Laryngeal malformations in the Richieri Costa and Pereira syndrome with airway obstruction].

Authors:  Patrícia Barcelos Ogando; Fábio Pires; Rita Carolina Pozzer Krummenauer; Marcus Vinícius Martins Collares; José Faibes Lubianca Neto
Journal:  Braz J Otorhinolaryngol       Date:  2011 Jan-Feb
  1 in total

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